Lipoprotein lipase mutations and Alzheimer's disease
- 16 April 1999
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 88 (2), 136-139
- https://doi.org/10.1002/(sici)1096-8628(19990416)88:2<136::aid-ajmg8>3.0.co;2-d
Abstract
Lipoprotein lipase (LPL) helps transfer lipids from lipoprotein particles to cells. In the brain, LPL is present in Alzheimer's disease (AD) amyloid plaques. LPL binds apolipoprotein E (ApoE) lipoprotein particles and low-density lipoprotein receptor-related protein (LRP), an ApoE receptor. Since polymorphisms in both ApoE and LRP influence AD risk, we sought to determine whether LPL mutations also affect AD risk. In a case-control study, the frequencies of two of the most common known LPL mutations were measured in European-Americans either clinically diagnosed or pathologically confirmed as AD or normal control (N) subjects. In clinically diagnosed subjects, the Ser447Ter mutation comprised 9.8% (62/630) of alleles in N and 3.8% (9/238) in AD, a significant difference (P = 0.0057), while the Asn291Ser mutation comprised 1.1% (5/460) of alleles in N and 5.1% (8/158) in AD, also a significant difference (P = 0.0073), though in pathologically confirmed subjects the allele frequencies for AD did not significantly differ from N for either mutation. In clinically diagnosed subjects, LPL mutations were associated with altered AD risk, suggesting a potential role for LPL in the causation of AD. Further studies in different populations should help clarify the questions raised by these results. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:136–139, 1999.Keywords
This publication has 36 references indexed in Scilit:
- Low density lipoprotein receptor related protein gene exon 3 polymorphism association with Alzheimer's disease in ChineseNeuroscience Letters, 1998
- Genetic association studies between Alzheimer's disease and two polymorphisms in the low density lipoprotein receptor-related protein geneNeuroscience Letters, 1998
- Lipoprotein lipase gene polymorphisms in ischaemic stroke and carotid stenosisEuropean Journal of Clinical Investigation, 1997
- Genetic Variant Showing a Positive Interaction With β-Blocking Agents With a Beneficial Influence on Lipoprotein Lipase Activity, HDL Cholesterol, and Triglyceride Levels in Coronary Artery Disease PatientsCirculation, 1997
- Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemiaEuropean Journal of Clinical Investigation, 1996
- Restriction isotyping of the premature termination variant of lipoprotein lipase in alberta hutteritesClinical Biochemistry, 1996
- The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemiaAtherosclerosis, 1996
- Stimulation of mono- and diacylglycerol lipase activities in ibotenate-induced lesions of nucleus basalis magnocellularisNeuroscience Letters, 1991
- Chylomicronemia Syndrome in Diabetes MellitusDiabetes Care, 1981
- Hyperlipidemic DementiaArchives of Neurology, 1974